Variant report

Variant	esv3378085
Chromosome Location	chr2:211725597-211726075
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527803140	chr2:211725615-211725616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190843638	chr2:211725637-211725638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570664121	chr2:211725691-211725692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139915316	chr2:211725752-211725753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73082135	chr2:211725796-211725797	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs4510155	chr2:211725950-211725951	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs552000562	chr2:211725956-211725957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183011836	chr2:211725966-211725967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563884928	chr2:211726000-211726001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs75870150	chr2:211726014-211726015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540733773	chr2:211726015-211726016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557480098	chr2:211726022-211726023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4299277	chr2:211726023-211726024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373400902	chr2:211726025-211726026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs115450404	chr2:211726038-211726039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211723000-211728000	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr2:211723000-211728000	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr2:211723200-211728200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr2:211723400-211726000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:211723600-211725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr2:211723800-211727000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:211724000-211727400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:211724200-211726400	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:211724400-211726800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:211724600-211725600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr2:211725200-211725800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr2:211725200-211725800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:211725200-211726000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr2:211725400-211726200	Weak transcription	Brain Germinal Matrix	brain
15	chr2:211725400-211728000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:211725600-211726600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:211725800-211726400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr2:211725800-211726800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:211725800-211726800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:211726000-211726800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr2:211726000-211727200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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